{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T14:39:32Z","timestamp":1781707172518,"version":"3.54.5"},"reference-count":111,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002923","name":"ANPCyT Argentina PICT-2021","doi-asserted-by":"publisher","award":["GRF-TI-00422"],"award-info":[{"award-number":["GRF-TI-00422"]}],"id":[{"id":"10.13039\/501100002923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital hearing loss is the most common birth defect, estimated to affect 2\u20133 in every 1000 births, with ~50\u201360% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2\/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.<\/jats:p>","DOI":"10.3390\/genes15020178","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T08:11:27Z","timestamp":1706515887000},"page":"178","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America"],"prefix":"10.3390","volume":"15","author":[{"given":"Maria Agustina","family":"De Rosa","sequence":"first","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria T.","family":"Bernardi","sequence":"additional","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"Kleppe","sequence":"additional","affiliation":[{"name":"Department of Clinical Pediatrics, Hospital Italiano de Buenos Aires, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherina","family":"Walz","sequence":"additional","affiliation":[{"name":"Instituto de Qu\u00edmica Biol\u00f3gica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, Argentina"},{"name":"John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA"},{"name":"John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-418 (M-860), Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014A silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_2","unstructured":"(2023, December 10). Deafness and Hearing Loss|World Health Organization. Available online: https:\/\/www.who.int\/health-topics\/hearing-loss#."},{"key":"ref_3","unstructured":"GBD 2017 Disease and Injury Incidence and Prevalence Collaborators (2018). 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